Asymptomatic phaeochromocytoma in a patient with Holt-Oram syndrome: a case report.
Perryn NgDoddabele DeepakLynette TeoTing Ting LowPublished in: European heart journal. Case reports (2019)
Phaeochromocytoma appears to be more prevalent in patients who are in a chronic hypoxic state. This hypoxic state has been postulated to cause the proliferation of adrenal tissue and therefore the formation of phaeochromocytomas. The hypoxia-inducing factor, which is increased in patients with phaeochromocytoma, has been identified as one of the key factors driving this process as it modulates genes that regulate angiogenesis and proliferation. Congenital heart defects seen in HOS can progress to cyanotic heart disease if left uncorrected and may have been the driver for the development of phaeochromocytoma in our patient.